Case of inherited epidermal growth factor receptor (EGFR) in non-small cell lung carcinoma (NSCLC) in a 37-year-old male 

Abstract

BackgroundLung cancer is one of the most diagnosed malignancies and the leading cause of death worldwide. In the United States, over 150,000 deaths occur annually; the 5-year survival rate is 16% due to late diagnosis and non-resectable tumors. 1 There are two major groups of lung cancer: Small Cell Lung Cancer (SCLC) and Non-small Cell Lung Cancer (NSCLC). NSCLC makes up the majority of lung cancer at 75%. 2 NSCLC is categorized into three subtypes: squamous cell carcinoma (SCC), adenocarcinoma, and large cell carcinoma. 3 Smoke exposure has been a dominant risk factor but risk will vary in different ethnicities and genders. 4 Statistics indicate that they are highest among men and especially in the Micronesian/Polynesian, Eastern Asian and Eastern European population. Additionally, 10-25% of lung cancers occur in those who never smoke. 3 There are cases of those who may have smoke exposure or other environmental risk factors. These include exposure to carcinogenic chemicals, ionizing radiation, asbestos and alcohol consumption. 3 There are also familial risk factors and genetics play a role in acquiring NSCLC. Familial clustering of cancer is seen when the same type of cancer is presented in two or more first degree relatives. This can be seen with shared environments, inherited mutations and high penetrance genes. 5 Genome wide association studies (GWAS) have been used to detect common alleles for inherited malignancies. 5